Aliases for SI Gene
External Ids for SI Gene
Previous GeneCards Identifiers for SI Gene
This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]
GeneCards Summary for SI Gene
SI (Sucrase-Isomaltase) is a Protein Coding gene. Diseases associated with SI include Sucrase-Isomaltase Deficiency, Congenital and Congenital Sucrase-Isomaltase Deficiency With Starch Intolerance. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and alpha-1,4-glucosidase activity. An important paralog of this gene is MGAM.
UniProtKB/Swiss-Prot for SI Gene
Plays an important role in the final stage of carbohydrate digestion. Isomaltase activity is specific for both alpha-1,4- and alpha-1,6-oligosaccharides.